Associated Papers
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Cocciadiferro D et al.
Frontiers in Genetics, 2023
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Vissers LELM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28333917 (PubMed )
Supplement: gim20171x1.zip › Vissers_GiM-D-16-00442__Supplementary_Table_4.xlsx › Suppl_Table_4
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